Journal of Clinical Neurology最新文献

{"title":"Genome-Wide Architecture of East Asian Patients With Migraine: A Genome-Wide Association Study Based on Familial History.","authors":"Joonho Kim, Min Kyung Chu","doi":"10.3988/jcn.2024.0241","DOIUrl":"10.3988/jcn.2024.0241","url":null,"abstract":"","PeriodicalId":15432,"journal":{"name":"Journal of Clinical Neurology","volume":"20 4","pages":"351-352"},"PeriodicalIF":2.9,"publicationDate":"2024-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11220348/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141476712","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Efficacy of Cerebellar Transcranial Magnetic Stimulation in Treating Essential Tremor: A Randomized, Sham-Controlled Trial.","authors":"Ahmad Farag Ibrahim El-Adawy, Mohamed Al-Bahay M G Reda, Ali Mahmoud Ahmed, Mohamed Hamed Rashad, Mohamed Ahmed Zaki, Mohie-Eldin Tharwat Mohamed, Mohammad Ali Saeed Hassan, Mohammad Fathi Abdulsalam, Abdelmonem M Hassan, Ahmed Fathy Mohamed, Abdel-Ghaffar Ismail Fayed, Mostafa Meshref, Fathy Mahmoud Mansour, Ahmed E Sarhan, Ahmed Hassan Elsheshiny, Elsayed Abed","doi":"10.3988/jcn.2023.0348","DOIUrl":"10.3988/jcn.2023.0348","url":null,"abstract":"<p><strong>Background and purpose: </strong>Repetitive transcranial magnetic stimulation (rTMS) of the cerebellar hemisphere represents a new option in treating essential tremor (ET) patients. We aimed to determine the efficacy of cerebellar rTMS in treating ET using different protocols regarding the number of sessions, exposure duration, and follow-up duration.</p><p><strong>Methods: </strong>A randomized sham-controlled trial was conducted, in which 45 recruit patients were randomly allocated to 2 groups. The first (active group) comprised 23 patients who were exposed to 12 sessions of active rTMS with 900 pulses of 1-Hz rTMS at 90% of the resting motor threshold daily on each side of the cerebellar hemispheres over 4 weeks. The second group (sham group) comprised 22 patients who were exposed to 12 sessions of sham rTMS. Both groups were reassessed at baseline and after 1 day, 1 month, 2 months, and 3 months using the Fahn-Tolosa-Marin tremor-rating scale (FTM).</p><p><strong>Results: </strong>Demographic characteristics did no differ between the two groups. There were significant reductions both in FTM subscores A and B and in the FTM total score in the active-rTMS group during the period of assessment and after 3 months (<i>p</i>=0.031 and 0.011, respectively). However, subscore C did not change significantly from baseline when assessed at 2 and 3 months (<i>p</i>=0.073 and 0.236, respectively). Furthermore, the global assessment score was significantly higher in the active-rTMS group (<i>p</i>>0.001).</p><p><strong>Conclusions: </strong>Low-frequency rTMS over the cerebellar cortex for 1 month showed relative safety and long-lasting efficacy in patients with ET. Further large-sample clinical trials are needed that include different sites of stimulation and longer follow-ups.</p>","PeriodicalId":15432,"journal":{"name":"Journal of Clinical Neurology","volume":"20 4","pages":"378-384"},"PeriodicalIF":2.9,"publicationDate":"2024-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11220355/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141476710","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Genetic Risk Loci and Familial Associations in Migraine: A Genome-Wide Association Study in the Han Chinese Population of Taiwan.","authors":"Yi Liu, Po-Kuan Yeh, Yu-Kai Lin, Chih-Sung Liang, Chia-Lin Tsai, Guan-Yu Lin, Yu-Chin An, Ming-Chen Tsai, Kuo-Sheng Hung, Fu-Chi Yang","doi":"10.3988/jcn.2023.0331","DOIUrl":"10.3988/jcn.2023.0331","url":null,"abstract":"<p><strong>Background and purpose: </strong>Migraine is a condition that is often observed to run in families, but its complex genetic background remains unclear. This study aimed to identify the genetic factors influencing migraines and their potential association with the family medical history.</p><p><strong>Methods: </strong>We performed a comprehensive genome-wide association study of a cohort of 1,561 outpatients with migraine and 473 individuals without migraine in Taiwan, including Han Chinese individuals with or without a family history of migraine. By analyzing the detailed headache history of the patients and their relatives we aimed to isolate potential genetic markers associated with migraine while considering factors such as sex, episodic vs. chronic migraine, and the presence of aura.</p><p><strong>Results: </strong>We revealed novel genetic risk loci, including rs2287637 in DEAD-Box helicase 1 and long intergenic non-protein coding RNA 1804 and rs12055943 in engulfment and cell motility 1, that were correlated with the family history of migraine. We also found a genetic location downstream of mesoderm posterior BHLH transcription factor 2 associated with episodic migraine, whereas loci within the ubiquitin-specific peptidase 26 exonic region, dual specificity phosphatase 9 and pregnancy-upregulated non-ubiquitous CaM kinase intergenic regions, and poly (ADP-ribose) polymerase 1 and <i>STUM</i> were linked to chronic migraine. We additionally identified genetic regionsassociated with the presence or absence of aura. A locus between <i>LINC02561</i> and urocortin 3 was predominantly observed in female patients. Moreover, three different single-nucleotide polymorphisms were associated with the family history of migraine in the control group.</p><p><strong>Conclusions: </strong>This study has identified new genetic locations associated with migraine and its family history in a Han Chinese population, reinforcing the genetic background of migraine. The findings point to potential candidate genes that should be investigated further.</p>","PeriodicalId":15432,"journal":{"name":"Journal of Clinical Neurology","volume":"20 4","pages":"439-449"},"PeriodicalIF":2.9,"publicationDate":"2024-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11220351/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141476711","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Multiple Acyl-CoA Dehydrogenase Deficiency: Phenotypic and Genetic Features of a Malaysian Cohort.","authors":"Jie Ping Schee, Joo San Tan, Cheng Yin Tan, Nortina Shahrizaila, Kum Thong Wong, Khean Jin Goh","doi":"10.3988/jcn.2023.0265","DOIUrl":"10.3988/jcn.2023.0265","url":null,"abstract":"<p><strong>Background and purpose: </strong>Multiple acyl-CoA dehydrogenase deficiency (MADD) is an inherited disorder of fatty acid oxidation that causes lipid storage myopathy (LSM). This is the first report on MADD that describes the phenotypic and genetic features of a Malaysian cohort.</p><p><strong>Methods: </strong>Among the >2,500 patients in a local muscle biopsy database, patients with LSM were identified and their genomic DNA were extracted from muscle samples and peripheral blood. All 13 exons of the electron-transfer flavoprotein dehydrogenase gene (<i>ETFDH</i>) were subsequently sequenced. Fifty controls were included to determine the prevalence of identified mutations in the normal population.</p><p><strong>Results: </strong>Fourteen (82%) of the 17 LSM patients had MADD with <i>ETFDH</i> mutations. Twelve (86%) were Chinese and two were Malay sisters. Other unrelated patients reported that they had no relevant family history. Nine (64%) were females. The median age at onset was 18.5 years (interquartile range=16-37 years). All 14 demonstrated proximal limb weakness, elevated serum creatine kinase levels, and myopathic changes in electromyography. Three patients experienced a metabolic crisis at their presentation. Sanger sequencing of <i>ETFDH</i> revealed nine different variants/mutations, one of which was novel: c.998A>G (p.Y333C) in exon 9. Notably, 12 (86%) patients, including the 2 Malay sisters, carried a common c.250G>A (p.A84T) variant, consistent with the hotspot mutation reported in southern China. All of the patients responded well to riboflavin therapy.</p><p><strong>Conclusions: </strong>Most of our Malaysian cohort with LSM had late-onset, riboflavin-responsive MADD with <i>ETFDH</i> mutations, and they demonstrated phenotypic and genetic features similar to those of cases reported in southern China. Furthermore, we report a novel <i>ETFDH</i> mutation and possibly the first ever MADD patients of Malay descent.</p>","PeriodicalId":15432,"journal":{"name":"Journal of Clinical Neurology","volume":"20 4","pages":"422-430"},"PeriodicalIF":2.9,"publicationDate":"2024-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11220347/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141476713","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Clinical Manifestations and Prognosis of Anti-Signal-Recognition-Particle Myositis.","authors":"Seol-Hee Baek, Kyomin Choi, Hyunjin Ju, Jeeyoung Oh, Byoung Joon Kim, Byung-Jo Kim","doi":"10.3988/jcn.2024.0007","DOIUrl":"10.3988/jcn.2024.0007","url":null,"abstract":"","PeriodicalId":15432,"journal":{"name":"Journal of Clinical Neurology","volume":"20 4","pages":"456-458"},"PeriodicalIF":2.9,"publicationDate":"2024-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11220360/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141476707","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Dynamic 3D CT Angiography can Detect Swallowing and Head-Rotation-Induced Location Inversion Between the Carotid Artery and Hyoid Bone in Asymptomatic Carotid Artery Stenosis.","authors":"Yuko Honda, Hiroyuki Kawano, Sayuri Fujita, Teruyuki Hirano","doi":"10.3988/jcn.2023.0423","DOIUrl":"10.3988/jcn.2023.0423","url":null,"abstract":"","PeriodicalId":15432,"journal":{"name":"Journal of Clinical Neurology","volume":"20 4","pages":"450-452"},"PeriodicalIF":2.9,"publicationDate":"2024-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11220357/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141476709","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Amifampridines are the Most Effective Drugs for Treating Lambert-Eaton Myasthenic Syndrome With a Focus on Pediatric Lambert-Eaton Myasthenic Syndrome.","authors":"Shin J Oh","doi":"10.3988/jcn.2024.0018","DOIUrl":"10.3988/jcn.2024.0018","url":null,"abstract":"<p><p>In 1983, the first successful trial of 3,4-diaminopyridine (3,4-DAP) in Lambert-Eaton myasthenic syndrome (LEMS) was reported. Efficacy of amifampridine (3,4-DAP and 3,4-diaminopyridine phosphate [3,4-DAPP]) for symptomatic treatment in LEMS was proven by seven randomized studies in 3,4-DAP and two randomized studies in 3,4-DAPP. US Food Drug Administration approved 3,4-DAPP usage for adult LEMS in 2018 and for pediatric LEMS in 2022. Nineteen pediatric LEMS cases were identified in the literature. Compared with adult LEMS, the rate of malignancy is low as expected and the rate of dysautonomia is also low in pediatric LEMS. Unexpected finding is two cases of pediatric LEMS following antecedent infection. Amifampridine can be safely used as long the daily dose is less than 80 mg a day for adult LEMS patients and less than 30 mg a day for pediatric LEMS patients. Amifampridines can be supplemented with a liberal amount of pyridostigmine for long term usage. Amifampridine was used as symptomatic treatment in eight (42%) of 19 pediatric LEMS patients: 3,4-DAP in six and 3,4-DAPP in two patients. The most common practice of 3,4-DAP was a combination with pyridostigmine in four patients. With 3,4-DAP, normal activity was reported in 3 cases and mild to moderate-improvement in other 3 cases. In two patients with 3,4-DAPP, significant improvement in one and no improvement in one. Amifampridines are proven to be effective and safe drugs for the symptomatic treatment without serious side reaction in adults as well as in children as long as the dosage is properly adhered.</p>","PeriodicalId":15432,"journal":{"name":"Journal of Clinical Neurology","volume":"20 4","pages":"353-361"},"PeriodicalIF":2.9,"publicationDate":"2024-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11220352/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141476703","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Comment on: \"Steroid-Responsive Dengue Encephalitis Without Typical Dengue Symptoms\".","authors":"Hinpetch Daungsupawong, Viroj Wiwanitkit","doi":"10.3988/jcn.2024.0119","DOIUrl":"10.3988/jcn.2024.0119","url":null,"abstract":"","PeriodicalId":15432,"journal":{"name":"Journal of Clinical Neurology","volume":"20 4","pages":"462-463"},"PeriodicalIF":2.9,"publicationDate":"2024-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11220356/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141476708","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Re: Comments on \"Steroid-Responsive Dengue Encephalitis Without Typical Dengue Symptoms\": The Authors Respond.","authors":"Hyun-Woo Kim","doi":"10.3988/jcn.2024.0124","DOIUrl":"10.3988/jcn.2024.0124","url":null,"abstract":"","PeriodicalId":15432,"journal":{"name":"Journal of Clinical Neurology","volume":"20 4","pages":"464-465"},"PeriodicalIF":2.9,"publicationDate":"2024-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11220362/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141476714","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Usefulness of the MFIS-K, FSS, and FACIT-F Fatigue Scales in Korean Patients With MS, NMOSD, and MOGAD.","authors":"Hyunjin Ju, Yeon Hak Chung, Soonwook Kwon, Eun Bin Cho, Kyung-Ah Park, Ju-Hong Min","doi":"10.3988/jcn.2023.0328","DOIUrl":"10.3988/jcn.2023.0328","url":null,"abstract":"<p><strong>Background and purpose: </strong>Fatigue is common in demyelinating disorders of the central nervous system (CNS), including multiple sclerosis (MS), neuromyelitis optica spectrum disorder (NMOSD), and myelin oligodendrocyte glycoprotein antibody-associated disease (MOGAD). We aimed to validate the usefulness of the Functional Assessment of Chronic Illness Therapy-Fatigue (FACIT-F) and the Fatigue Severity Scale (FSS) relative to the Korean version of the Modified Fatigue Impact Scale (MFIS-K) in Korean patients with MS, NMOSD, and MOGAD.</p><p><strong>Methods: </strong>There were 294 patients with MS (<i>n</i>=120), NMOSD (<i>n</i>=103), or MOGAD (<i>n</i>=71) enrolled in a prospective demyelinating CNS registry. Fatigue was measured using the FACIT-F, MFIS-K, and FSS. Sleep quality, quality of life, depression, and pain were evaluated using the Pittsburgh Sleep Quality Index (PSQI), 36-item Short-Form Survey (SF-36), and Beck Depression Inventory-II (BDI-II).</p><p><strong>Results: </strong>The MFIS-K, FACIT-F, and FSS scores showed high internal consistencies and strong correlations with each other in the MS, NMOSD, and MOGAD groups. The scores on all three fatigue scales were correlated with PSQI, SF-36, and BDI-II results in the three groups. The areas under the receiver operating characteristic curves for the FSS and FACIT-F were 0.834 and 0.835, respectively, for MS, 0.877 and 0.833 for NMOSD, and 0.925 and 0.883 for MOGAD.</p><p><strong>Conclusions: </strong>These results suggest that the MFIS-K, FSS, and FACIT-F are useful and valuable assessment instruments for evaluating fatigue in Korean patients with MS, NMOSD, and MOGAD.</p>","PeriodicalId":15432,"journal":{"name":"Journal of Clinical Neurology","volume":"20 4","pages":"431-438"},"PeriodicalIF":2.9,"publicationDate":"2024-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11220359/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141476718","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}